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AT A GLANCE

Summary: Newer molecular technologies to precisely and efficiently manipulate the mammalian genome are enabling the production of more scientifically valuable animal models.

REVIEW

Summary: This Review compares two key types of amyotrophic lateral sclerosis (ALS) mouse models: transgenic mice and those that express genes at physiological levels. We explore the advantages of each type for studying pathomechanisms, to understand what they can teach us about ALS.

RESEARCH ARTICLES

Summary: Using the vps13Δ strain, a yeast model of the neurodegenerative disorder chorea-acanthocytosis, we found that its defects can be overcome by reduction of calcineurin activity and/or type-I-myosin activation.

Summary: Targeted knockout of Fbn1 in the ciliary epithelium of the mouse eye undermines the structural and biomechanical integrity of the ciliary zonule and results in an ectopia lentis phenotype.

Summary: A model of islet inflammation in zebrafish exhibits functional β-cell silencing and a lack of glucose responsiveness. A natural compound that rescues the glucose defect in zebrafish can protect human islets from inflammation.

Summary: Here, we show that an exonic splicing enhancer variant in DUOX2 (c.1226 A>G) causes aberrant splicing of DUOX2 transcripts, resulting in lower H2O2 production, to cause severe congenital hypothyroidism in Bama pigs.

Editor's choice: The HECTD1 ubiquitin ligase is a novel modulator of retinoic acid signaling during aortic arch development and provides a model for complex interactions underlying variations in aortic arch development.

Summary: This study reveals that the MITF-PEDF pathway plays a critical role in RPE homeostasis and that simple eye drops of a PEDF 17-mer peptide can partially prevent Mitf deficiency-associated retinal degeneration in mice.

Summary: In spinocerebellar ataxia type 7, SUMOylation contributes to the clearance of mutant ATXN7. SUMO2-modified ATXN7 interacts with the SUMO-dependent ubiquitin ligase RNF4, which polyubiquitinates ATXN7, promoting its proteasomal degradation.

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